Aortic stenosis in hypoplastic right heart syndrome, associated with interstitial deletion of chromosome 2.
This report describes a rare case of moderate to severe valvular aortic stenosis in the setting of severe tricuspid stenosis, pulmonary atresia with intact interventricular septum and right ventricular dependent coronary circulation. We discuss the clinical, hemodynamic, echocardiographic and angiocardiographic findings on this rare case and comment on accompanied malformations, with its possible association observed to the interstitial deletion of band q22 or q24 of the long arm of chromosome 2.
Sharma
J
J
Division of Pediatric Cardiology, The New York Hospital-Cornell Medical Center, NY 10021, USA.
Friedman
D
D
Schiller
M
M
Flynn
P
P
Alonso
M L
ML
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D061085:Agenesis of Corpus Callosum; D000790:Angiocardiography; D001024:Aortic Valve Stenosis / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D004562:Electrocardiography; D006325:Heart Atria / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D006869:Hydronephrosis / Q000175:diagnosis; D017403:In Situ Hybridization; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014261:Tricuspid Valve / Q000002:abnormalities